Browsing Biomedical Sciences by Publisher "BioMed Central Ltd"

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Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review

Kohil, Amira; Abdallah, Atiyeh M.; Hussain, Khalid; Al-Shafai, Mashael ( BioMed Central Ltd , 2023 , Article Review)
Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematically ...
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

Malik, Shaza; Zaied, Roan; Syed, Najeeb; Jithesh, Puthen; Al-Shafai, Mashael ( BioMed Central Ltd , 2021 , Article)
Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the ...
Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review

Younes, Salma; Elkahlout, Razan; Kilani, Houda; Okashah, Sarah; Sharshani, Hussain Al; Rezoug, Zoulikha; Zayed, Hatem; Al-Dewik, Nader... more authors ... less authors ( BioMed Central Ltd , 2025 , Article)
Background Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. The Middle East and North Africa, and Türkiye ...